ACE

angiotensin I converting enzyme

Summary

This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]

Known Variants501 total

rsidPosition (GRCh37)AllelesClassClinVar
rs429117:61,554,194T/Aregulatory region variantbenign
rs429217:61,554,341C/Tregulatory region variantbenign
rs100579291017:61,554,457T/C—pathogenic
rs251068082317:61,554,458G/T—likely pathogenic
rs55859300217:61,554,460G/A—uncertain significance
rs251068085517:61,554,470G/C—likely benign
rs145192648017:61,554,475G/T—uncertain significance
rs133311625517:61,554,477C/T—uncertain significance
rs132021031217:61,554,480G/A—uncertain significance
rs124497153817:61,554,485G/C—likely benign
rs111099117:61,554,500G/C—conflicting classifications of pathogenicity
rs144180543417:61,554,505C/G—uncertain significance
rs138471053217:61,554,512G/A—likely benign
rs128877912817:61,554,522C/G—uncertain significance
rs96832765317:61,554,529A/T—uncertain significance
rs135659937017:61,554,533C/T—likely benign
rs77409224117:61,554,535C/T—uncertain significance
rs74623781417:61,554,537C/T—likely benign
rs140184830917:61,554,564G/C—uncertain significance
rs143789771917:61,554,587C/T—likely benign
rs76735332017:61,554,595A/G—conflicting classifications of pathogenicity
rs88605321917:61,554,619C/T—uncertain significance
rs14791271517:61,554,632G/A—likely benign
rs127839015917:61,554,642C/T—likely pathogenic
rs78060191917:61,554,644G/A—likely benign
rs117028732917:61,554,659C/G—uncertain significance
rs37256595517:61,554,664C/T—likely benign
rs77325789717:61,554,666C/T—likely benign
rs76654811417:61,554,668C/A—uncertain significance
rs75255963717:61,554,669G/T—uncertain significance
rs133176687917:61,554,675A/G—uncertain significance
rs18445727617:61,554,686G/A—likely benign
rs77861509817:61,554,687G/T—pathogenic
rs37020082017:61,554,695A/G—conflicting classifications of pathogenicity
rs143541871217:61,554,696A/G—uncertain significance
rs204963395317:61,554,708G/A—uncertain significance
rs144991059817:61,554,718C/T—likely benign
rs139284593017:61,554,719C/G—likely benign
rs156803504917:61,554,720C/G—likely benign
rs721120717:61,554,913G/C—benign
rs37080980517:61,555,273C/T—likely benign
rs57684572817:61,555,274C/T—likely benign
rs20172813917:61,555,284C/T—conflicting classifications of pathogenicity
rs15038284617:61,555,295G/A—uncertain significance
rs76714988917:61,555,317A/T—uncertain significance
rs214752555517:61,555,367T/C—uncertain significance
rs133406707317:61,555,386C/G—uncertain significance
rs14569254717:61,555,391C/T—conflicting classifications of pathogenicity
rs77312153817:61,555,395G/T—uncertain significance
rs76708505417:61,555,425G/A—uncertain significance
rs76031024817:61,555,449A/C—uncertain significance
rs372965917:61,555,453G/T—conflicting classifications of pathogenicity
rs77942241217:61,555,454C/Tstop gainedpathogenic
rs75048187217:61,555,457C/G—uncertain significance
rs75843645817:61,555,463G/A—uncertain significance
rs126191964517:61,555,464G/A—uncertain significance
rs11400055917:61,555,467G/A—benign
rs372966017:61,555,472C/T—conflicting classifications of pathogenicity
rs429317:61,555,666G/Aintron variantbenign
rs429517:61,556,298C/G—benign
rs76694518217:61,556,397G/C—uncertain significance
rs75170276117:61,556,406C/G—likely benign
rs76770542717:61,556,407A/G—uncertain significance
rs75302538317:61,556,409C/T—likely benign
rs1330608717:61,556,410G/A—benign
rs14332053717:61,556,415G/C—uncertain significance
rs14835168017:61,556,424C/T—likely benign
rs20128532117:61,556,427C/T—conflicting classifications of pathogenicity
rs11713473917:61,556,429A/G—benign
rs251068379017:61,556,439C/T—likely benign
rs101519532617:61,556,446T/G—uncertain significance
rs13907695117:61,556,453T/C—uncertain significance
rs76335240117:61,556,457C/T—conflicting classifications of pathogenicity
rs429617:61,556,527A/G—benign
rs76437741717:61,557,111C/G—likely benign
rs373002117:61,557,115C/T—likely benign
rs373002217:61,557,155G/A—likely benign
rs36902261017:61,557,157G/A—uncertain significance
rs20012737117:61,557,164C/T—likely benign
rs1272075417:61,557,165G/A—likely benign
rs56784151417:61,557,167C/G—conflicting classifications of pathogenicity
rs429817:61,557,200C/T—benign
rs76734024917:61,557,201G/A—uncertain significance
rs76374245017:61,557,206G/A—likely benign
rs75336122817:61,557,208G/A—uncertain significance
rs74720610817:61,557,215G/T—likely benign
rs251068469517:61,557,217T/C—uncertain significance
rs429917:61,557,218G/A—benign
rs14846028717:61,557,223C/T—conflicting classifications of pathogenicity
rs76322375317:61,557,231G/A—uncertain significance
rs14267719917:61,557,258G/A—uncertain significance
rs15101797817:61,557,272C/T—uncertain significance
rs430017:61,557,286C/T—benign
rs20135687717:61,557,685C/T—likely benign
rs251068539217:61,557,686C/T—likely benign
rs1272073417:61,557,689C/T—benign
rs75302371417:61,557,715G/T—uncertain significance
rs14154332517:61,557,724C/T—conflicting classifications of pathogenicity
rs75742146617:61,557,732G/T—uncertain significance
rs77884113017:61,557,742C/A—uncertain significance

Showing 100 of 501 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

ACE — angiotensin I converting enzyme — genewizard.net